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PIGO gene
Known as:
DKFZp434M222
, phosphatidylinositol glycan anchor biosynthesis class O
, PIGO
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.
Alexander M. Holtz
,
Amanda W. Harrington
,
+4 authors
P. Levy
European Journal of Medical Genetics
2019
Corpus ID: 207963917
2018
2018
Perfect images of generalized ordered spaces
G. Gruenhage
,
D. Lutzer
2018
Corpus ID: 125397978
We study the class of perfect images of generalized ordered (GO) spaces, which we denote by PIGO. Mary Ellen Rudin’s celebrated…
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2017
2017
Phenotype–genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties
Junpei Tanigawa
,
Haruka Mimatsu
,
+19 authors
Y. Murakami
Human Mutation
2017
Corpus ID: 205923656
Inherited GPI (glycosylphosphatidylinositol) deficiencies (IGDs), a recently defined group of diseases, show a broad spectrum of…
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Review
2017
Review
2017
PIGO deficiency: palmoplantar keratoderma and novel mutations
M. Morren
,
J. Jaeken
,
+5 authors
K. Freson
Orphanet Journal of Rare Diseases
2017
Corpus ID: 4209519
BackgroundSeveral genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including…
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Highly Cited
2017
Highly Cited
2017
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
A. Pagnamenta
,
Y. Murakami
,
+15 authors
U. Kini
European Journal of Human Genetics
2017
Corpus ID: 40866240
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes…
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2016
2016
Clinical and genetic analysis of two Chinese infants with Mabry syndrome
J. Xue
,
Hui Li
,
Yuehua Zhang
,
Zhixian Yang
Brain & development (Tokyo. )
2016
Corpus ID: 206315847
Review
2015
Review
2015
Phenytoin-Induced Gingival Over Growth: A Review
I. Karimzadeh
,
S. Namazi
,
A. Borhani-Haghighi
,
H. Khosropanah
2015
Corpus ID: 42894384
Context: Gingival overgrowth can be associated with pharmacotherapy. Among the offending medications of gingival overgrowth…
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2014
2014
New insights into the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesis.
M. Stokes
,
Y. Murakami
,
Y. Maeda
,
T. Kinoshita
,
Y. Morita
Biochemical Journal
2014
Corpus ID: 32416948
PIGF is a protein involved in the ethanolamine phosphate (EtNP) transfer steps of glycosylphosphatidylinositol (GPI) biosynthesis…
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2013
2013
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome
D. Horn
,
D. Wieczorek
,
+11 authors
P. Krawitz
European Journal of Human Genetics
2013
Corpus ID: 19135334
Three different genes of the glycosylphosphatidylinositol anchor synthesis pathway, PIGV, PIGO, and PGAP2, have recently been…
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2007
2007
The 9p13.3 amplicon in prostate cancer
K. Leinonen
2007
Corpus ID: 56412196
Background and Aims: Prostate cancer is the most common cancer in Finnish men. The molecular mechanisms of prostate cancer are…
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